Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature

Abstract

Background Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TSC2 mutations. This German multicenter study estimated the costs and related cost drivers associated with organ manifestations in adults with TSC. Methods A validated, three-month, retrospective questionnaire assessed the sociodemographic and clinical characteristics, organ manifestations, direct, indirect, out-of-pocket (OOP), and nursing care-level costs among adult individuals with TSC throughout Germany from a societal perspective (costing year: 2019). Results We enrolled 192 adults with TSC (mean age: 33.4 ± 12.7 years; range: 18–78 years, 51.6% [n = 99] women). Reported TSC disease manifestations included skin (94.8%) and kidney and urinary tract (74%) disorders, epilepsy (72.9%), structural brain defects (67.2%), psychiatric disorders (50.5%), heart and circulatory system disorders (50.5%), and lymphangioleiomyomatosis (11.5%). TSC1 and TSC2 mutations were reported in 16.7% and 25% of respondents, respectively. Mean direct health care costs totaled EUR 6452 (median EUR 1920; 95% confidence interval [CI] EUR 5533–7422) per patient over three months. Medication costs represented the major direct cost category (77% of total direct costs; mean EUR 4953), and mechanistic target of rapamycin (mTOR) inhibitors represented the largest share (68%, EUR 4358). Mean antiseizure drug (ASD) costs were only EUR 415 (6%). Inpatient costs (8%, EUR 518) and outpatient treatment costs (7%; EUR 467) were important further direct cost components. The mean care grade allowance as an approximator of informal nursing care costs was EUR 929 (median EUR 0; 95% CI EUR 780–1083) over three months. Mean indirect costs totaled EUR 3174 (median EUR 0; 95% CI EUR 2503–3840) among working-age individuals (< 67 years in Germany). Multiple regression analyses revealed mTOR inhibitor use and persistent seizures as independent cost-driving factors for total direct costs. Older age and disability were independent cost-driving factors for total indirect costs, whereas epilepsy, psychiatric disease, and disability were independent cost-driving factors for nursing care costs. Conclusions This three-month study revealed substantial direct healthcare, indirect healthcare, and medication costs associated with TSC in Germany. This study highlights the spectrum of organ manifestations and their associated treatment needs in the German healthcare setting. Trial registration: DRKS, DRKS00016045. Registered 01 March 2019, http://www.drks.de/DRKS00016045.

Trends in resource utilization and cost of illness in patients with active epilepsy in Germany from 2003 to 2020

“…This is reflected in the current evaluation, in particular in the finding that the rate of patients retiring early due to epilepsy, at 18.5%, is by far higher than the general early retirement rate in Germany, which was stable at .9% in relation to the working‐age population between 2018 and 2020 49 . The large share of indirect costs and the composition of direct and indirect cost components are in line with previous studies 7,50,51 …”

“…49 The large share of indirect costs and the composition of direct and indirect cost components are in line with previous studies. 7,50,51 The second objective of this study was to compare the 2020 COI with methodologically comparable costs from 2003, 2008, and 2013. [7][8][9] After adjusting the direct and indirect cost factors for inflation and the increase in gross income (Figure 1C), the epilepsy-specific COI appeared to be stable between 2003 and 2020.…”

Epidemiology, healthcare resource use, and mortality in patients with tuberous sclerosis complex: A population-based study on German health insurance data

“…For example, long-term data from the UK Clinical Practice Research Datalink (CPRD) reported costs for TSC that were almost triple those of the control population [31]. A recent 3-month retrospective questionnaire study revealed substantial direct and indirect healthcare costs associated with TSC in Germany [32]. Two previous studies have reported high healthcare costs specifically for individuals with TSC and epilepsy, although neither analysis compared costs for those with and without epilepsy [12,13].…”

Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine

“… 11 TSC is associated with a high burden of illness with consequent cost and resource implications for healthcare systems. 5 , 14 , 15 …”